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Reviewed June 2008
What is the official name of the TFAP2B gene?
The official name of this gene is “transcription factor AP-2 beta (activating enhancer binding protein 2 beta).”
TFAP2B is the gene's official symbol. The TFAP2B gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the TFAP2B gene?
The TFAP2B gene provides instructions for making a protein called transcription factor AP-2β. A transcription factor is a protein that attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Transcription factor AP-2β is one of a group of related proteins called AP-2 transcription factors. These proteins regulate genes that help control cell division and the self-destruction of cells that are no longer needed (apoptosis).
Transcription factor AP-2β is involved in development before birth. In particular, this protein is active in the neural crest, which is a group of cells in the early embryo that give rise to many tissues and organs. Neural crest cells migrate to form portions of the nervous system, glands that produce hormones (endocrine glands), pigment cells, smooth muscle and other tissues in the heart, and many tissues in the face and skull. Transcription factor AP-2β also appears to play an important role in the development of the limbs.
How are changes in the TFAP2B gene related to health conditions?
Where is the TFAP2B gene located?
Cytogenetic Location: 6p12
Molecular Location on chromosome 6: base pairs 50,817,709 to 50,847,618
The TFAP2B gene is located on the short (p) arm of chromosome 6 at position 12.
More precisely, the TFAP2B gene is located from base pair 50,817,709 to base pair 50,847,618 on chromosome 6.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about TFAP2B?
You and your healthcare professional may find the following resources about TFAP2B helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the TFAP2B gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding TFAP2B?
adipocytes ; apoptosis ; cell ; cell division ; diabetes ; diabetes mellitus ; DNA ; embryo ; enhancer ; gene ; glucose ; high blood sugar ; hormone ; insulin ; nervous system ; neural crest ; pancreas ; pigment ; protein ; syndrome ; transcription ; transcription factor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (7 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.